Objective To investigate the modified methods and effects of the flaps with nutrient vessels of superficial vein-cutaneous nerve of lower limb which used for repair of the lower extremity soft-tissues defects.Methods Between December 2003 and September 2009, 18 patients were treated with this modified skin flap, in which 11 cases male; 7 cases were female, age from 5 to 73 years.Average age was 45.9 years.Repair parts: 4 cases of dorsal foot, 3 cases of foot, heel in 2 cases, the ankle weeks in 2 cases, calves under 1 / 3 of 7 cases, of which 8 cases of bone exposure wounds, tendons exposed in 3 cases.Surgical repair of soft tissue defect size of about 6 cm×4 cm-22 cm × 10 cm, which retained the donor sural nerve function retrograde sural nerve flap in 4 cases, with a thin layer of muscle retrograde sural nerve flap in 4 cases.Results All the flaps were survived completely without any complications.The appearance and functional results were satisfactory with following up for 3 to 36 months.18 cases of flap were survived completely, primary healing, without any complications such as vein congestion or engorgement.The 4 cases which remains the cutaneous nerve in site had an average recovery time about 13 days of the donor site.The innervated region of the cutaneous nerve had no acroesthesia or dysesthesia.Conclusion This modified operation methods of flap, enhanced the blood support of the flap, impmved the survive rates and also preserved the sensory function of the patients' donor site.This modified flap with nutrient vessels of superficial vein-cutaneous nerve is a convenient and safe method in repairing lower extremity soft-tissues defects.

Objective To observe the effects of secreted protein,acidic and rich in cysteine (SPARC) on the expression of TGF-β1 and collagen type Ⅰ in cultured human keloid fibroblasts by real-time fluorescence quantitative RT-PCR.Methods In vitro keloid fibroblasts were stimulated by different concentrations of recombinant human SPARC,and with the control group for comparison,real-time fluorescence quantitative RT-PCR to detect expression of TGFβ1 and collagen type Ⅰ.Results Compared with the control group,the expression of TGF-β1 and collagen type Ⅰ was significantly increased in the experimental group.Conclusions SPARC could enhance the expression of TGF-β1 and collagen type Ⅰ in keloid fibroblasts significantly.

Abstract: To report on two patients with Coronavirus Disease 2019 (COVID-19) combined with diffuse connective tissue disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection followed for nearly 3 years, in order to understand the long-term effects on the patients' immune system. Both patients were male, aged 81-82 years, and were hospitalized with fever on January 29, 2020 and February 10, 2020, respectively. Both were diagnosed with COVID-19 after positive SARS-CoV-2 polymerase chain reaction (PCR) tests. After receiving anti-infection treatment, cough suppressants, ex‐pectorants, and symptomatic supportive treatment, their body temperature returned to normal and two consecutive PCR tests were negative for SARS-CoV-2, and they were discharged from hospital. However, due to recurring fevers and varying degrees of rheumatic disease-related symptoms, both patients were readmitted to the hospital, indicating the presence of positive auto‐ antibodies and organ involvement. One patient recovered from COVID-19 with recurrent fever, joint pain, muscle aches and subcutaneous nodules, and was subsequently diagnosed with undifferentiated connective tissue disease. The other patient developed recurrent fever, mouth ulcers and rash after recovery from COVID-19 and was subsequently diagnosed with anti neutro phil cytoplasm antibody (ANCA)-associated vasculitis (AAV). The patient was treated with glucocorticoids and immunosuppres sive drugs and the symptoms resolved rapidly and subsequent laboratory and imaging examinations showed stable condition. However, due to self-termination of medication, their symptoms quickly relapsed, and further treatment with glucocorticoids and immunosuppressive agents resulted in sustained stability of their condition. The erythrocyte sedimentation rate and hyper‐sensitive C-reactive protein remained within normal limits, and lung CT scans showed stable lesions with partial absorption.SARS-CoV-2 infection may have long-term effects on patients' immune systems, leading to abnormal immune responses and diffuse connective tissue disease. This suggests that regular follow-up observation of immune system-related diseases may be necessary for elderly patients with COVID-19.

Objective:To evaluate the myocardial protective effect of goal-directed circulation management guided by cardiac index (CI) monitored by pressure recording analytical method (PRAM) in infants undergoing pediatric liver transplantation.Methods:A total of 120 pediatric patients, aged 5-15 months, weighing 5.5-10.0 kg, scheduled for elective living donor liver transplantation (all diagnosed with congenital biliary atresia) were selected and divided into 2 groups ( n=60 each) using a random number table method: routine group (group R) and goal-directed management guided by CI group (group CI-G). Patients in group R received routine hemodynamic monitoring according to central venous pressure (CVP), continuous invasive arterial pressure, blood gas analysis and other monitoring methods to guide intraoperative circulation management.Patients in CI-G group received intraoperative hemodynamic monitoring through radial artery using PRAM/Mostcare, and related treatments were guided by PRAM hemodynamic monitoring indicators.The intraoperative volume of fluid intake, highest and lowest values of parameters of hemodynamics such as heart rate (HR), mean arterial pressure (MAP) and CVP, the maximum fluctuations (△ RHR, △ RMAP and △ RCVP) and the development of reperfusion syndrome within 5 min of reperfusion were recorded.At the beginning of anesthesia (T 0), at 5 min before reperfusion (T 1), at 30 min of neohepatic phase (T 2), at 3 h of neohepatic phase (T 3) and at 12 h after operation (T 4), concentrations of serum cardiac troponin I (cTnI), N-terminal plasma brain natriuretic peptide precursor (NT-pro-BNP), interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α) and high mobility group protein B1 (HMGB1) were determined.Mechanical ventilation time, duration of intensive care unit (ICU) stay, the development of heart failure and pulmonary infection, length of hospital stay were recorded. Results:Compared with group R, the intraoperative volume of fluid intake, highest value of CVP, △ RHR, △ RMAP and the incidence of reperfusion syndrome were significantly decreased, lowest value of MAP was increased, concentrations of serum cTnI, NT-pro-BNP, IL-6, TNF-α and HMGB1 was decreased, mechanical ventilation time and duration of ICU were shortened, and the incidence of heart failure during ICU stay were decreased in group CI-G( P<0.05). Conclusion:The goal-directed circulation management guided by CI monitored by PRAM can accurately guide the use of volume and vasoactive drugs, stabilize circulation, which can produce myocardial protective effect to some extent in infants undergoing pediatric liver transplantation.

Objective:To explore the effect of cardiac output-guided hemodynamic management on acute kidney injury(AKI)during pediatric liver transplantation.Methods:A total of 120 pediatric living-donor liver transplantation recipients were randomly divided into two groups of control and experiment(60 cases each group). Control group received routine hemodynamic management of central venous pressure(CVP), continuous invasive arterial pressure and blood gas analysis.Experiment group was subjected to cardiac output-guided hemodynamic management guided by cardiac index, stroke volume index, stroke volume variation and left ventricular contractility index (DP/DTmax). Intraoperative hemodynamics and incidence of AKI were recorded.And the serum changes of neutrophil gelatinase-associated lipocalin(NGAL), cystatin C(CysC)and inflammatory factors were analyzed.Results:The incidence of AKI was lower in experiment group than that in control group(26.7% vs 45%). The incidence of postreperfusion syndrome(PRS), intraoperative fluid infusion and maximal value of CVP were lower while minimal value of mean arterial pressure(MAP)higher in experiment group than those in control group( P<0.05). The serum levels of NGAL, CysC, interleukin-6(IL-6), interleukin-18(IL-18)and tumor necrosis level-alpha(TNF-α)were lower in experiment group than those in control group at each timepoint from 3 h post-reperfusion to 48 h post-operation( P<0.05). Conclusions:During pediatric living-donor liver transplantation, cardiac output-guided hemodynamic management is conducive to more accurate fluid management.It can stabilize circulation, minimize PRS and reduce the occurrence of AKI during perioperative period.

Objective:To explore the effect of intensive insulin therapy on hemodynamics and cardiac function in organ donors.Methods:A total of 60 organ donors were randomly divided into two groups of intensive insulin therapy(IIT)and control(30cases each group). Blood glucose was adjusted at 6.2~10.0 mmol/L in control group and 4.4~6.1 mmol/L in IIT group.Blood glucose and insulin dosage during maintenance were recorded.Cardiac function values as well as serum inflammatory factor concentrations at admission and during donation were compared between two groups.Results:During maintenance, blood glucose was significantly lower in IIT group than that in control group [(5.1±0.6)vs(8.2±1.5)mmol/L, P<0.05] and insulin dosage was higher than that in control group [(9.5±3.2)vs(5.8±1.5)U/h, P<0.05]. As compared with control group, cardiac cycle efficiency(CCE), maximal rate of elevated pressure(DP/DT max)and left ventricular ejection fraction(LVEF)in were significantly higher in IIT group than those of control group.And serum cardiac troponin I(cTnI), N-terminal B-type natriuretic peptide(NT-Pro-BNP), interleukin-6(IL-6), tumor necrosis factor-α(TNF-α)and high mobility group box-1 protein(HMGB1)as well as vasoactive-inotropic score(VIS)were significantly lower than those in control group( P<0.05). As compared with control group, cardiac donation rate of IIT group was significantly higher(30% vs 16.7%, P<0.05). Conclusions:Intensive insulin therapy and blood glucose control may blunt inflammatory response in organ donors, lessen myocardial injury and myocardial depression, stabilize hemodynamics and boost the rate of cardiac donation.

Objective:To evaluate the effect of stroke volume variation(SVV) goal-directed fluid therapy on postoperative pulmonary complications(PPCs) after pediatric living donor liver transplantation.Methods:One hundred and twenty pediatric patients undergoing pediatric living-donor liver transplantation(all diagnosed with congenital biliary atresia) were divided into 2 groups( n=60 each) using the random number table method: control group and SVV group. Intraoperative fluid management was guided by central venous pressure and mean arterial pressure in control group, while by SVV combined with cardiac output in SVV group. Intraoperative circulation, fluid intake and usage of vasoactive drug were recorded. Central venous blood samples were collected to determine the concentrations of serum Clara cell 16 kDa protein, interleukin-6, and tumor necrosis factor-alpha before anesthesia(T 0), at the end of anhepatic phase(T 1), at 3 h of neohepatic phase(T 2), at the end of surgery(T 3) and at 24 h after operation(T 4). Pulmonary ultrasonography was performed before surgery, at the end of surgery and at 1, 3 and 7 days after surgery. The pediatric patients were followed up for 1 week after surgery to record the PPCs, including acute lung injury, pulmonary infection, pulmonary atelectasis, pleural effusion and acute respiratory distress syndrome. Results:Compared with control group, the incidence of PPCs, acute lung injury and pulmonary infection was significantly decreased, the pulmonary ultrasound score was decreased at the end of surgery and at 1, 3 and 7 days after surgery, the usage of intraoperative dobutamine was increased, the duration of postreperfusion syndrome was shortened, the fluid intake and epinephrine usage were reduced, and the serum Clara cell 16 kDa protein, tumor necrosis factor-alpha and interleukin-6 concentrations were decreased at T 1-T 4 in SVV group( P<0.05). Conclusions:SVV goal-directed fluid management can reduce the development of PPCs in pediatric living donor liver transplantation.

OBJECTIVE: To analyze FOXC2 gene variant in a family affected with lymphodema-distichiasis syndrome (LDS). METHODS: Peripheral blood samples were collected for the extraction of DNA and protein. Whole-exome sequencing was carried out to detect variants in the proband. Suspected variant was validated by Sanger sequencing. Western blotting was used to detect changes in protein expression. RESULTS: The proband and his mother were both found to carry a heterozygous nonsense variant c.177C>G (p.Tyr59X) of the FOXC2 gene, which was previously unreported. Down-regulated expression of FOXC2 was detected by Western blotting. Prenatal ultrasonography of the fetus indicated increased nuchal thickness. Amniocentesis was performed at 21+1 weeks of pregnancy, genetic testing suggested that the fetus also carried the c.177C>G variant. CONCLUSION The patients' condition may be attributed to the heterozygous nonsense variant c.177C>G of the FOXC2 gene, which resulted in a significant decrease in FOXC2 expression. Increased nuchal thickness may also be related with decreased FOXC2 expression. Above finding has expanded the variant spectrum of the FOXC2 gene.
Codon, Nonsense ; Eyelashes ; abnormalities ; Female ; Forkhead Transcription Factors ; genetics ; metabolism ; Gene Expression ; Genetic Testing ; Genetic Variation ; Humans ; Lymphedema ; genetics ; Pedigree ; Pregnancy ; Prenatal Diagnosis

OBJECTIVE: To explore the genetic basis for a fetus with cerebellar dysplasia and widened lateral ventricles. METHODS: The couple have elected induced abortion after careful counseling. Skin tissue sample from the abortus and peripheral venous blood samples from both parents were collected for the extraction of genomic DNA, which was then subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: Prenatal ultrasonography showed increased nuchal translucency (0.4 cm) and widened lateral ventricles. Magnetic resonance imaging revealed infratentorial brain dysplasia. By DNA sequencing, the fetus was found to carry compound heterozygous variants c.1A>G and c.1564G>A of the RARS2 gene, which were inherited from its father and mother, respectively. Among these, c.1A>G was known to be pathogenic, but the pathogenicity of c.1564G>A was unreported previously. Based on the American College of Medical Genetics and Genomics guidelines, the c.1564G>A variant of RARS2 gene was predicted to be likely pathogenic(PM2+PM3+PP3+PP4). CONCLUSION The compound heterozygous variants c.1A>G and c.1564G>A of RARS2 gene contributed to the fetus suffering from pontocerebellar hypoplasia type 6, which expanded variant spectrum of RARS2 gene.
Female ; Fetus ; Genomics ; Humans ; Mutation ; Olivopontocerebellar Atrophies ; Pregnancy ; Whole Exome Sequencing

Objective:To identify the risk factors for acute lung injury (ALI) after pediatric living donor liver transplantation (LDLT) and evaluate the predictive value.Methods:The pediatric patients (all diagnosed with congenital biliary atresia) who underwent parental liver transplantation in our center from January to December 2021 were selected. Perioperative data were obtained through the electronic medical record system, and the pediatric patients were divided into non-ALI group and ALI group according to whether ALI occurred or not at 1 week after surgery. The factors of which P values were less than 0.05 between groups would enter the multivariate logistic regression analysis to stratify the risk factors for ALI after pediatric LDLT, and the value of the risk factors in predicting intraoperative ALI was evaluated using the receiver operating characteristic curve. Results:A total of 140 pediatric patients were enrolled in the analysis, and the incidence of ALI was 30.7%. The results of the multivariate logistic regression analysis showed that preoperative pediatric end-stage liver disease score, preoperative serum NT-pro-BNP concentrations, intraoperative volume of fluid transfused, and duration of postreperfusion syndrome were independent risk factors for ALI after LDLT in pediatric patients ( P<0.05). The area under the receiver operating characteristic curve of the preoperative N-terminal pro-brain natriuretic peptide(NT-pro-BNP) concentration in predicting postoperative ALI was 0.737 ( P<0.001), with a cutoff value of 222.1 ng/L, sensitivity of 0.628, and specificity of 0.732. Conclusions:Preoperative pediatric end-stage liver disease score, serum NT-pro-BNP concentrations, intraoperative volume of fluid transfused, and duration of postreperfusion syndrome are independent risk factors for ALI after LDLT in pediatric patients; preoperative serum NT-pro-BNP concentrations can effectively predict the development of ALI after pediatric LDLT surgery.